Clinical and genetic studies of paediatric neuromuscular disorders
Monique started paediatric training at the Royal Children’s in Melbourne, then moved to Sydney Children’s Hospital to further her paediatrics. She then started neurology training in Sydney at the Children’s Hospital at Westmead, and her first research was on congenital myopathies with Kathryn North. After 18 months in Sydney she moved to Boston, where she finished neurology training and did a neurophysiology fellowship. She then returned to Sydney for several years before moving back to Melbourne, treading a very fine line between being peripatetic and very pathetic. During all these endless years of training she cemented a research interest in paediatric peripheral nerve and muscle disorders, and in Sydney and Melbourne she’s been involved with clinical research programs looking at the natural history and possible new treatment for these conditions.
Interview by Russell Dale
What is the paper you are proudest of?
A few years ago Robert Ouvrier, Josh Burns and I undertook a trial of vitamin C supplementation in Charcot-Marie-Tooth disease. The paper was published in Lancet Neurology. This was the first clinical trial of a treatment for CMT in childhood, and it’s been a bit of a landmark study.
If I gave you $1 million dollars for research, what would you do with it?
(thinking: Run away to an island in the Caribbean)… Let’s see. One million dollars is not that much really. I think I would set up a funded annual fellowship to enable us to set up another research fellowship at RCH, and offer it every year to trainees from India, the Philippines, Thailand etc in order to upskill other countries in Asia on diagnosis and clinical management of paediatric neuromuscular disorders, with the aim of them returning to their own countries and setting up trial sites. There are very few dedicated paediatric neuromuscular centres elsewhere in Asia and this is a real area of need.
Suggest an awesome multi-centre project that ANZ could do subject to relevant funding?
An epidemiological study on incidence and prevalence of paediatric neuromuscular disorders in ANZ. We tried to do one a few years back through the APSU but it didn’t work all that well. We still lack good data on what patients are where, with what conditions, and that sort of information can be invaluable for sorting out resource allocation and planning clinical trials.
What is the most important priority in your research area?
Improving quality of life of children with lifelong neuromuscular disorders. Recent treatment advances have improved life expectancy to a really significant degree, and I expect this trend will continue, but quality of life has not improved to the same extent. We need to improve long-term functionality but we also need provision of better transition services and community support for young adults with a physical disability.
You have a good sense of humour, who is the funniest person in your department?
Andrew Kornberg. He sends me evil emails and memes when we’re in meetings. I’m the one who gets in trouble for laughing. It’s dreadfully unfair.
Give me three reasons why Melbourne is better than Sydney
Summertime bay swims, the Carlton football club, coffee coffee coffee.
… nonsense (last word).